ClinVar Miner

Variants in gene combination AMACR, C1QTNF3-AMACR with conflicting interpretations reported as "uncertain significance and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_014324.6(AMACR):c.603G>A (p.Leu201=) rs200253417 0.00039
NM_014324.6(AMACR):c.247+8C>G rs779779299 0.00032
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_014324.6(AMACR):c.247+9G>T rs1361255226 0.00006
NM_014324.6(AMACR):c.429G>A (p.Pro143=) rs368427062 0.00006
NM_014324.6(AMACR):c.90T>G (p.Arg30=) rs769780647 0.00006
NM_014324.6(AMACR):c.1011C>T (p.Ile337=) rs779290495 0.00004
NM_014324.6(AMACR):c.366C>T (p.His122=) rs775128044 0.00001
NM_014324.6(AMACR):c.48G>A (p.Pro16=) rs144271819 0.00001
NM_014324.6(AMACR):c.714C>G (p.Pro238=) rs200824585 0.00001
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr) rs199734111
NM_014324.6(AMACR):c.27G>A (p.Val9=) rs780679627
NM_014324.6(AMACR):c.289C>A (p.Arg97=) rs757072374
NM_014324.6(AMACR):c.553-5C>A rs1753722683

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